Tschigg Katharina, Consoli Luca, Biasiotto Roberta, Mascalzoni Deborah
Department of Cellular, Computational, and Integrative Biology, University of Trento, Trento, Italy.
Institute for Biomedicine & Affiliated Institute of the University of Lübeck, Eurac Research, Bolzano, Italy, Bozen, Italy.
Eur J Hum Genet. 2022 Sep;30(9):1000-1010. doi: 10.1038/s41431-022-01120-y. Epub 2022 Jun 15.
Recall by Genotype (RbG), Genotype-driven-recall (GDR), and Genotype-based-recall (GBR) strategies are increasingly used to conduct genomic or biobanking sub-studies that single out participants as eligible because of their specific individual genotypic information. However, existing regulatory and governance frameworks do not apply to all aspects of genotype-driven research approaches. The recall strategies disclose or withhold personal genotypic information with uncertain clinical utility. Accordingly, this scoping review aims to identify peculiar, explicit and implicit ethical, legal, and societal/social implications (ELSI) of RbG study designs. We conducted a systematic literature search of three electronic databases from November 2020 to February 2021. We investigated qualitative and quantitative research methods used to report ELSI aspects in RbG research. Congruent with other research findings, we identified a lack of qualitative research investigating the particular ELSI challenges with RbG. We included and analysed the content of twenty-five publications. We found a consensus on RbG posing significant ethical issues, dilemmas, barriers, concerns and societal challenges. However, we found that the approaches to disclosure and study-specific recall and communication strategies employed consent models and Return of Research Results (RoRR) policies varied considerably. Furthermore, we identified a high heterogeneity in perspectives of participants and experts about ELSI of study-specific RbG policies. Therefore, further fine-mapping through qualitative and empirical research is needed to draw conclusions and re-fine ELSI frameworks.
基于基因型召回（RbG）、基因型驱动召回（GDR）和基于基因型召回（GBR）策略越来越多地用于开展基因组或生物样本库子研究，这些研究根据参与者特定的个体基因型信息挑选出符合条件的参与者。然而，现有的监管和治理框架并不适用于基因型驱动研究方法的所有方面。这些召回策略披露或隐瞒了具有不确定临床效用的个人基因型信息。因此，本范围综述旨在确定RbG研究设计特有的、明确的和隐含的伦理、法律和社会影响（ELSI）。我们在2020年11月至2021年2月期间对三个电子数据库进行了系统的文献检索。我们调查了用于报告RbG研究中ELSI方面的定性和定量研究方法。与其他研究结果一致，我们发现缺乏针对RbG特有的ELSI挑战的定性研究。我们纳入并分析了25篇出版物的内容。我们发现，人们对RbG带来重大伦理问题、困境、障碍、担忧和社会挑战达成了共识。然而，我们发现，在披露方法以及针对特定研究的召回和沟通策略所采用的同意模型和研究结果返还（RoRR）政策方面存在很大差异。此外，我们发现参与者和专家对特定研究的RbG政策的ELSI的看法存在高度异质性。因此，需要通过定性和实证研究进行进一步的精细映射，以得出结论并重新完善ELSI框架。
